Canonical Allele Identifier: CA515264807

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160648C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722220C>G , CM000684.2:g.50722220C>G	GRCh38
NC_000022.10:g.51160648C>G , CM000684.1:g.51160648C>G	GRCh37
NC_000022.9:g.49507514C>G	NCBI36
NG_008607.2:g.52866C>G
NG_070230.1:g.58004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3988C>G	ENSP00000489147.2:p.Pro1330Ala
ENST00000414786.7:n.4572C>G
ENST00000445220.7:c.3040C>G	ENSP00000489407.2:p.Pro1014Ala
ENST00000664402.2:c.2530C>G	ENSP00000499475.1:p.Pro844Ala
ENST00000673971.2:c.*2986C>G	ENSP00000501192.1:n.*2986C>G
ENST00000445220.6:c.3040C>G	ENSP00000489407.2:p.Pro1014Ala
ENST00000262795.6:c.3988C>G	ENSP00000489147.2:p.Pro1330Ala
ENST00000664402.1:c.2530C>G	ENSP00000499475.1:p.Pro844Ala
ENST00000673971.1:c.*2986C>G	ENSP00000501192.1:n.*2986C>G
ENST00000262795.5:c.4384C>G	ENSP00000489147.1:p.Pro1462Ala
ENST00000414786.6:n.4572C>G
ENST00000445220.5:c.4366C>G	ENSP00000489407.1:p.Pro1456Ala